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Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

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Related Experiment Video

Updated: Apr 16, 2026

Isolation and Quantification of Epstein-Barr Virus from the P3HR1 Cell Line

Isolation and Quantification of Epstein-Barr Virus from the P3HR1 Cell Line

Published on: September 28, 2022

Epstein-Barr virus candidate genes and multiple sclerosis.

Kelly Claire Simon¹, Hollie Schmidt², Sara Loud²

¹Department of Nutrition, Harvard School of Public Health, 655 Huntington Ave, Boston, MA, USA; Channing Laboratory, Department of Medicine, Brigham and Women׳s Hospital and Harvard Medical School, 181 Longwood Ave, Boston, MA, USA.

Multiple Sclerosis and Related Disorders

|March 20, 2015

Summary

Genetic factors do not appear to explain the link between Epstein-Barr virus (EBV) and infectious mononucleosis (IM) history and multiple sclerosis (MS) risk. This study found no significant associations between specific gene polymorphisms and MS, IM, or EBV antibody titers.

Keywords:

Epidemiology Epstein–Barr virus Gene Infectious mononucleosis Multiple sclerosis Single nucleotide polymorphisms

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Last Updated: Apr 16, 2026

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Published on: March 30, 2018

Area of Science:

Neuroimmunology
Virology
Genetics

Background:

Epstein-Barr virus (EBV) infection and infectious mononucleosis (IM) history are linked to increased multiple sclerosis (MS) risk.
The role of shared genetic factors in this association remains largely unexplored.

Purpose of the Study:

To investigate if genetic polymorphisms associated with IM susceptibility influence MS risk.
To examine the relationship between these polymorphisms, self-reported IM history, and antibody titers against Epstein-Barr virus nuclear antigen 1 (anti-EBNA1).

Main Methods:

A case-control study utilized data from 1213 MS cases and 454 controls from the Accelerated Cure Project for MS (ACP) Repository.
Polymorphisms in HLA-A, SH2D1A, and IL15RA genes and anti-EBNA1 antibody titers were analyzed.
Generalized linear models assessed associations between polymorphisms, MS odds, IM odds, and anti-EBNA1 antibody titers.

Main Results:

No significant associations were found between the investigated polymorphisms and the odds of MS.
The selected polymorphisms did not show significant associations with the odds of IM or anti-EBNA1 antibody titers.

Conclusions:

The studied genetic polymorphisms are unlikely to explain the association between anti-EBNA1 antibody titers or IM history and MS risk.
Further research is needed to elucidate the underlying mechanisms connecting EBV, IM, and MS pathogenesis.